RecruitingNot applicableNCT01659749
Metabolic
Maple Syrup Urine Disease
Also known as MSUD, branched-chain ketoaciduria, branched-chain ketoacid decarboxylase deficiency, BCKDHA/BCKDHB/DBT deficiency
Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) enzyme complex, which is required to break down the branched-chain amino acids leucine, isol
ORPHA:511 ↗Gene BCKDHAGene BCKDHBGene DBTPrevalence 1-9 per 100,000 (Orphanet)Onset Neonatal, InfantileAutosomal recessive genetic
2
studies recruiting now
as of 7 Sept 2026
17
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
26 Oct 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04602325
Systemic Biomarkers of Brain Injury From Hyperammonemia
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) enzyme complex, which is required to break down the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these amino acids and their toxic ketoacid metabolites causes acute metabolic crises, encephalopathy, and if untreated, death or severe neurological damage. The disease is named for the characteristic maple syrup odor of urine in affected infants.
Common clinical features
Maple syrup odor of urinePoor feedingEncephalopathyMetabolic crisisHypertonia then hypotoniaSeizuresIntellectual disability
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Amino Acids (Amino acids)
Phase 2/3Phenylbutanoic Acid
INDSodium Phenylbutyrate (Ambutyrate)
Before you apply
Things trial teams commonly ask about for Maple Syrup Urine Disease. Not eligibility rules; those are set by each study.
- Thiamine-responsive MSUD is a distinct subtype — thiamine responsiveness testing may be required for certain trial arms
- Liver transplantation corrects BCKAD deficiency — transplanted patients are typically excluded from enzyme-replacement trials
- Leucine levels and branched-chain amino acid ratios are the primary biomarkers for eligibility and monitoring
- Dietary management history including formula compliance is often reviewed during screening
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).